PedAM

Pediatric Disease Annotations & Medicines


	neuromuscular disease

Disease ID	646
Disease	neuromuscular disease
Definition	A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA.
Synonym	combined disorder of muscle and peripheral nerve combined disorder of muscle and peripheral nerve (disorder) combined disorder of muscle and peripheral nerve [ambiguous] disease neuromuscular diseases neuromuscular disorders neuromuscular myoneural disorder myoneural disorder nos myoneural disorder nos (disorder) myoneural disorder, nos myoneural disorders myoneural disorders nos myoneural disorders, unspecified neuromuscular dis neuromuscular disease, nos neuromuscular diseases neuromuscular diseases [disease/finding] neuromuscular disorder neuromuscular disorders neuromyopathies neuromyopathy neuromyopathy (disorder) neuromyopathy, nos
Orphanet	ORPHANET:68381
DOID	DOID:440
UMLS	C0027868
MeSH	D009468
SNOMED-CT	SNOMEDCT_US_2016_09_01:257277002;SNOMEDCT_US_2016_09_01:255522009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:32) C1145670 \| respiratory failure \| 5 C0036439 \| scoliosis \| 4 C0028754 \| obesity \| 2 C0026848 \| myopathies \| 2 C0948265 \| metabolic syndrome \| 2 C0014544 \| seizure disorder \| 2 C0851578 \| sleep disorders \| 1 C0034063 \| pulmonary edema \| 1 C0025362 \| mental retardation \| 1 C0026846 \| muscle wasting \| 1 C0497327 \| dementia \| 1 C0024115 \| lung disease \| 1 C0017152 \| gastritis \| 1 C0019555 \| developmental dysplasia of the hip \| 1 C0011570 \| depression \| 1 C0026896 \| myasthenia gravis \| 1 C0004245 \| av block \| 1 C0878544 \| cardiomyopathy \| 1 C0027121 \| myositis \| 1 C0086543 \| cataract \| 1 C0042870 \| vitamin d defic \| 1 C0019196 \| hepatitis c \| 1 C0002736 \| amyotrophic lateral sclerosis \| 1 C0020538 \| hypertension \| 1 C0751651 \| mitochondrial disease \| 1 C0019158 \| hepatitis \| 1 C0026846 \| muscular atrophy \| 1 C0033860 \| psoriasis \| 1 C0042870 \| vitamin d deficiency \| 1 C0007193 \| dilated cardiomyopathy \| 1 C0017168 \| acid reflux \| 1 C0751651 \| mitochondrial diseases \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:77) MARS \| 4141 \| UniProtKB-KW SURF1 \| 6834 \| UniProtKB-KW PRX \| 57716 \| UniProtKB-KW;GHR MPZ \| 4359 \| UniProtKB-KW;GHR ATP2A1 \| 487 \| GHR LRP4 \| 4038 \| UniProtKB-KW TPI1 \| 7167 \| CTD_human PRPS1 \| 5631 \| UniProtKB-KW;GHR CHRND \| 1144 \| UniProtKB-KW;GHR SLC18A3 \| 6572 \| UniProtKB-KW MME \| 4311 \| UniProtKB-KW RAPSN \| 5913 \| UniProtKB-KW;GHR KIF1B \| 23095 \| UniProtKB-KW;GHR MTMR2 \| 8898 \| UniProtKB-KW;GHR KARS \| 3735 \| UniProtKB-KW;GHR GNB4 \| 59345 \| UniProtKB-KW FIG4 \| 9896 \| UniProtKB-KW;GHR ALG2 \| 85365 \| UniProtKB-KW TRPV4 \| 59341 \| CLINVAR;UniProtKB-KW;GHR SCN4A \| 6329 \| UniProtKB-KW;GHR MUSK \| 4593 \| UniProtKB-KW;GHR VCP \| 7415 \| UniProtKB-KW DHTKD1 \| 55526 \| UniProtKB-KW;GHR FBLN5 \| 10516 \| UniProtKB-KW IGHMBP2 \| 3508 \| UniProtKB-KW CHAT \| 1103 \| UniProtKB-KW;GHR PMP22 \| 5376 \| UniProtKB-KW;GHR FGD4 \| 121512 \| UniProtKB-KW;GHR NDRG1 \| 10397 \| UniProtKB-KW;GHR SNAP25 \| 6616 \| UniProtKB-KW DYNC1H1 \| 1778 \| UniProtKB-KW;GHR CHRNB1 \| 1140 \| UniProtKB-KW;GHR NAGLU \| 4669 \| UniProtKB-KW CHRNE \| 1145 \| UniProtKB-KW;GHR EGR2 \| 1959 \| UniProtKB-KW;GHR TRIM2 \| 23321 \| UniProtKB-KW SLC25A46 \| 91137 \| UniProtKB-KW AARS \| 16 \| UniProtKB-KW;GHR HARS \| 3035 \| UniProtKB-KW AIFM1 \| 9131 \| UniProtKB-KW;GHR LMNA \| 4000 \| UniProtKB-KW;GHR LITAF \| 9516 \| UniProtKB-KW;GHR RAB7A \| 7879 \| UniProtKB-KW;GHR INF2 \| 64423 \| UniProtKB-KW;GHR MORC2 \| 22880 \| UniProtKB-KW LRSAM1 \| 90678 \| UniProtKB-KW;GHR BSCL2 \| 26580 \| GHR GARS \| 2617 \| UniProtKB-KW;GHR PDK3 \| 5165 \| UniProtKB-KW AGRN \| 375790 \| UniProtKB-KW;GHR PLEC \| 5339 \| GHR DPAGT1 \| 1798 \| UniProtKB-KW SBF1 \| 6305 \| UniProtKB-KW SBF2 \| 81846 \| UniProtKB-KW;GHR ALG14 \| 199857 \| UniProtKB-KW DNM2 \| 1785 \| UniProtKB-KW;GHR HK1 \| 3098 \| UniProtKB-KW COLQ \| 8292 \| UniProtKB-KW;GHR SYT2 \| 127833 \| UniProtKB-KW NEFH \| 4744 \| UniProtKB-KW GDAP1 \| 54332 \| UniProtKB-KW;GHR GJB1 \| 2705 \| UniProtKB-KW;GHR SH3TC2 \| 79628 \| UniProtKB-KW;GHR COX6A1 \| 1337 \| UniProtKB-KW YARS \| 8565 \| UniProtKB-KW;GHR COL13A1 \| 1305 \| UniProtKB-KW MED25 \| 81857 \| UniProtKB-KW;GHR SLC5A7 \| 60482 \| UniProtKB-KW DOK7 \| 285489 \| UniProtKB-KW;GHR HSPB1 \| 3315 \| UniProtKB-KW;GHR HSPB8 \| 26353 \| UniProtKB-KW;GHR GFPT1 \| 2673 \| UniProtKB-KW;GHR CHRNA1 \| 1134 \| UniProtKB-KW;GHR SPG11 \| 80208 \| UniProtKB-KW PLEKHG5 \| 57449 \| UniProtKB-KW MFN2 \| 9927 \| UniProtKB-KW;GHR XK \| 7504 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 270 \| AMPD1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:580) 126393 \| HSPB6 \| DISEASES 920 \| CD4 \| DISEASES 79931 \| TNIP3 \| DISEASES 54432 \| YIPF1 \| DISEASES 23152 \| CIC \| DISEASES 4804 \| NGFR \| DISEASES 27248 \| ERLEC1 \| DISEASES 23645 \| PPP1R15A \| DISEASES 6820 \| SULT2B1 \| DISEASES 7593 \| MZF1 \| DISEASES 5434 \| POLR2E \| DISEASES 9342 \| SNAP29 \| DISEASES 22880 \| MORC2 \| DISEASES 2999 \| GZMH \| DISEASES 8106 \| PABPN1 \| DISEASES 10423 \| CDIPT \| DISEASES 7038 \| TG \| DISEASES 54332 \| GDAP1 \| DISEASES 8797 \| TNFRSF10A \| DISEASES 4741 \| NEFM \| DISEASES 5971 \| RELB \| DISEASES 11129 \| CLASRP \| DISEASES 973 \| CD79A \| DISEASES 5864 \| RAB3A \| DISEASES 199731 \| CADM4 \| DISEASES 51024 \| FIS1 \| DISEASES 2218 \| FKTN \| DISEASES 23064 \| SETX \| DISEASES 8288 \| EPX \| DISEASES 3558 \| IL2 \| DISEASES 2483 \| FRG1 \| DISEASES 969 \| CD69 \| DISEASES 4618 \| MYF6 \| DISEASES 4617 \| MYF5 \| DISEASES 3458 \| IFNG \| DISEASES 2026 \| ENO2 \| DISEASES 11021 \| RAB35 \| DISEASES 1337 \| COX6A1 \| DISEASES 7287 \| TULP1 \| DISEASES 9896 \| FIG4 \| DISEASES 9450 \| LY86 \| DISEASES 3565 \| IL4 \| DISEASES 59345 \| GNB4 \| DISEASES 5341 \| PLEK \| DISEASES 25823 \| TPSG1 \| DISEASES 9927 \| MFN2 \| DISEASES 9419 \| CRIPT \| DISEASES 9499 \| MYOT \| DISEASES 23435 \| TARDBP \| DISEASES 10342 \| TFG \| DISEASES 80218 \| NAA50 \| DISEASES 2703 \| GJA8 \| DISEASES 2700 \| GJA3 \| DISEASES 4656 \| MYOG \| DISEASES 1959 \| EGR2 \| DISEASES 11017 \| SNRNP27 \| DISEASES 54436 \| SH3TC1 \| DISEASES 583 \| BBS2 \| DISEASES 4620 \| MYH2 \| DISEASES 51081 \| MRPS7 \| DISEASES 718 \| C3 \| DISEASES 11034 \| DSTN \| DISEASES 6939 \| TCF15 \| DISEASES 6779 \| STATH \| DISEASES 4974 \| OMG \| DISEASES 821 \| CANX \| DISEASES 8139 \| GAN \| DISEASES 3315 \| HSPB1 \| DISEASES 4654 \| MYOD1 \| DISEASES 3630 \| INS \| DISEASES 23503 \| ZFYVE26 \| DISEASES 7251 \| TSG101 \| DISEASES 1890 \| TYMP \| DISEASES 8735 \| MYH13 \| DISEASES 80317 \| ZKSCAN3 \| DISEASES 78992 \| YIPF2 \| DISEASES 83854 \| ANGPTL6 \| DISEASES 91574 \| C12orf65 \| DISEASES 9590 \| AKAP12 \| DISEASES 9584 \| RBM39 \| DISEASES 2521 \| FUS \| DISEASES 6117 \| RPA1 \| DISEASES 1401 \| CRP \| DISEASES 3508 \| IGHMBP2 \| DISEASES 10208 \| USPL1 \| DISEASES 4622 \| MYH4 \| DISEASES 5375 \| PMP2 \| DISEASES 81846 \| SBF2 \| DISEASES 55140 \| ELP3 \| DISEASES 4064 \| CD180 \| DISEASES 10752 \| CHL1 \| DISEASES 271 \| AMPD2 \| DISEASES 10468 \| FST \| DISEASES 1828 \| DSG1 \| DISEASES 27429 \| HTRA2 \| DISEASES 2016 \| EMX1 \| DISEASES 1144 \| CHRND \| DISEASES 3569 \| IL6 \| DISEASES 4836 \| NMT1 \| DISEASES 6366 \| CCL21 \| DISEASES 9581 \| PREPL \| DISEASES 2660 \| MSTN \| DISEASES 6741 \| SSB \| DISEASES 1134 \| CHRNA1 \| DISEASES 6857 \| SYT1 \| DISEASES 10329 \| TMEM5 \| DISEASES 4001 \| LMNB1 \| DISEASES 55068 \| ENOX1 \| DISEASES 1352 \| COX10 \| DISEASES 59341 \| TRPV4 \| DISEASES 16 \| AARS \| DISEASES 55697 \| VAC14 \| DISEASES 80208 \| SPG11 \| DISEASES 9325 \| TRIP4 \| DISEASES 8766 \| RAB11A \| DISEASES 4141 \| MARS \| DISEASES 5289 \| PIK3C3 \| DISEASES 3757 \| KCNH2 \| DISEASES 10959 \| TMED2 \| DISEASES 10558 \| SPTLC1 \| DISEASES 54927 \| CHCHD3 \| DISEASES 55526 \| DHTKD1 \| DISEASES 5264 \| PHYH \| DISEASES 6855 \| SYP \| DISEASES 3553 \| IL1B \| DISEASES 3574 \| IL7 \| DISEASES 23095 \| KIF1B \| DISEASES 55669 \| MFN1 \| DISEASES 941 \| CD80 \| DISEASES 56925 \| LXN \| DISEASES 57679 \| ALS2 \| DISEASES 200576 \| PIKFYVE \| DISEASES 590 \| BCHE \| DISEASES 9759 \| HDAC4 \| DISEASES 8506 \| CNTNAP1 \| DISEASES 5443 \| POMC \| DISEASES 8626 \| TP63 \| DISEASES 3383 \| ICAM1 \| DISEASES 80321 \| CEP70 \| DISEASES 7879 \| RAB7A \| DISEASES 2028 \| ENPEP \| DISEASES 6717 \| SRI \| DISEASES 5286 \| PIK3C2A \| DISEASES 7112 \| TMPO \| DISEASES 65082 \| VPS33A \| DISEASES 54509 \| RHOF \| DISEASES 10150 \| MBNL2 \| DISEASES 7168 \| TPM1 \| DISEASES 3073 \| HEXA \| DISEASES 5428 \| POLG \| DISEASES 8826 \| IQGAP1 \| DISEASES 1039 \| CDR2 \| DISEASES 7157 \| TP53 \| DISEASES 6647 \| SOD1 \| DISEASES 207 \| AKT1 \| DISEASES 1762 \| DMWD \| DISEASES 2702 \| GJA5 \| DISEASES 2212 \| FCGR2A \| DISEASES 4209 \| MEF2D \| DISEASES 3756 \| KCNH1 \| DISEASES 805 \| CALM2 \| DISEASES 5433 \| POLR2D \| DISEASES 51365 \| PLA1A \| DISEASES 8795 \| TNFRSF10B \| DISEASES 3439 \| IFNA1 \| DISEASES 740 \| MRPL49 \| DISEASES 3606 \| IL18 \| DISEASES 8562 \| DENR \| DISEASES 4613 \| MYCN \| DISEASES 291 \| SLC25A4 \| DISEASES 26353 \| HSPB8 \| DISEASES 4154 \| MBNL1 \| DISEASES 2697 \| GJA1 \| DISEASES 761 \| CA3 \| DISEASES 25929 \| GEMIN5 \| DISEASES 1436 \| CSF1R \| DISEASES 10563 \| CXCL13 \| DISEASES 9131 \| AIFM1 \| DISEASES 29028 \| ATAD2 \| DISEASES 26060 \| APPL1 \| DISEASES 56896 \| DPYSL5 \| DISEASES 10120 \| ACTR1B \| DISEASES 3017 \| HIST1H2BD \| DISEASES 267 \| AMFR \| DISEASES 84303 \| CHCHD6 \| DISEASES 115650 \| TNFRSF13C \| DISEASES 808 \| CALM3 \| DISEASES 326 \| AIRE \| DISEASES 643 \| CXCR5 \| DISEASES 1145 \| CHRNE \| DISEASES 7805 \| LAPTM5 \| DISEASES 2215 \| FCGR3B \| DISEASES 29765 \| TMOD4 \| DISEASES 6051 \| RNPEP \| DISEASES 7203 \| CCT3 \| DISEASES 213 \| ALB \| DISEASES 64419 \| MTMR14 \| DISEASES 8927 \| BSN \| DISEASES 56979 \| PRDM9 \| DISEASES 27242 \| TNFRSF21 \| DISEASES 1437 \| CSF2 \| DISEASES 29896 \| TRA2A \| DISEASES 10922 \| FASTK \| DISEASES 7253 \| TSHR \| DISEASES 5913 \| RAPSN \| DISEASES 9150 \| CTDP1 \| DISEASES 4640 \| MYO1A \| DISEASES 90678 \| LRSAM1 \| DISEASES 6786 \| STIM1 \| DISEASES 83547 \| RILP \| DISEASES 5436 \| POLR2G \| DISEASES 117245 \| HRASLS5 \| DISEASES 56947 \| MFF \| DISEASES 9427 \| ECEL1 \| DISEASES 11079 \| RER1 \| DISEASES 3960 \| LGALS4 \| DISEASES 79058 \| ASPSCR1 \| DISEASES 3479 \| IGF1 \| DISEASES 43 \| ACHE \| DISEASES 8988 \| HSPB3 \| DISEASES 1493 \| CTLA4 \| DISEASES 3094 \| HINT1 \| DISEASES 1140 \| CHRNB1 \| DISEASES 53917 \| RAB24 \| DISEASES 9655 \| SOCS5 \| DISEASES 5354 \| PLP1 \| DISEASES 8403 \| SOX14 \| DISEASES 154 \| ADRB2 \| DISEASES 2548 \| GAA \| DISEASES 3708 \| ITPR1 \| DISEASES 389524 \| GTF2IRD2B \| DISEASES 8487 \| GEMIN2 \| DISEASES 2733 \| GLE1 \| DISEASES 25992 \| SNED1 \| DISEASES 5376 \| PMP22 \| DISEASES 29925 \| GMPPB \| DISEASES 3265 \| HRAS \| DISEASES 27129 \| HSPB7 \| DISEASES 27165 \| GLS2 \| DISEASES 4744 \| NEFH \| DISEASES 1605 \| DAG1 \| DISEASES 64837 \| KLC2 \| DISEASES 1604 \| CD55 \| DISEASES 147912 \| SIX5 \| DISEASES 10318 \| TNIP1 \| DISEASES 8411 \| EEA1 \| DISEASES 4684 \| NCAM1 \| DISEASES 10397 \| NDRG1 \| DISEASES 783 \| CACNB2 \| DISEASES 80381 \| CD276 \| DISEASES 51067 \| YARS2 \| DISEASES 89941 \| RHOT2 \| DISEASES 643834 \| PGA3 \| DISEASES 9921 \| RNF10 \| DISEASES 547 \| KIF1A \| DISEASES 9203 \| ZMYM3 \| DISEASES 9202 \| ZMYM4 \| DISEASES 7706 \| TRIM25 \| DISEASES 3032 \| HADHB \| DISEASES 1272 \| CNTN1 \| DISEASES 349149 \| GJC3 \| DISEASES 9919 \| SEC16A \| DISEASES 114971 \| PTPMT1 \| DISEASES 57716 \| PRX \| DISEASES 121227 \| LRIG3 \| DISEASES 81857 \| MED25 \| DISEASES 26230 \| TIAM2 \| DISEASES 633 \| BGN \| DISEASES 23101 \| MCF2L2 \| DISEASES 8784 \| TNFRSF18 \| DISEASES 3739 \| KCNA4 \| DISEASES 66008 \| TRAK2 \| DISEASES 6331 \| SCN5A \| DISEASES 22906 \| TRAK1 \| DISEASES 246329 \| STAC3 \| DISEASES 6656 \| SOX1 \| DISEASES 942 \| CD86 \| DISEASES 2903 \| GRIN2A \| DISEASES 10052 \| GJC1 \| DISEASES 3916 \| LAMP1 \| DISEASES 342184 \| FMN1 \| DISEASES 10013 \| HDAC6 \| DISEASES 23008 \| KLHDC10 \| DISEASES 5133 \| PDCD1 \| DISEASES 1174 \| AP1S1 \| DISEASES 4664 \| NAB1 \| DISEASES 1103 \| CHAT \| DISEASES 55775 \| TDP1 \| DISEASES 10011 \| SRA1 \| DISEASES 50615 \| IL21R \| DISEASES 3300 \| DNAJB2 \| DISEASES 6622 \| SNCA \| DISEASES 7317 \| UBA1 \| DISEASES 23583 \| SMUG1 \| DISEASES 203068 \| TUBB \| DISEASES 3117 \| HLA-DQA1 \| DISEASES 51008 \| ASCC1 \| DISEASES 23321 \| TRIM2 \| DISEASES 1180 \| CLCN1 \| DISEASES 9516 \| LITAF \| DISEASES 966 \| CD59 \| DISEASES 9639 \| ARHGEF10 \| DISEASES 114659 \| LRRC37B \| DISEASES 2709 \| GJB5 \| DISEASES 50650 \| ARHGEF3 \| DISEASES 78997 \| GDAP1L1 \| DISEASES 3178 \| HNRNPA1 \| DISEASES 859 \| CAV3 \| DISEASES 921 \| CD5 \| DISEASES 23463 \| ICMT \| DISEASES 7273 \| TTN \| DISEASES 64518 \| TEKT3 \| DISEASES 3605 \| IL17A \| DISEASES 9962 \| SLC23A2 \| DISEASES 285489 \| DOK7 \| DISEASES 56704 \| JPH1 \| DISEASES 84940 \| CORO6 \| DISEASES 23114 \| NFASC \| DISEASES 10516 \| FBLN5 \| DISEASES 57446 \| NDRG3 \| DISEASES 1861 \| TOR1A \| DISEASES 538 \| ATP7A \| DISEASES 1739 \| DLG1 \| DISEASES 8898 \| MTMR2 \| DISEASES 1760 \| DMPK \| DISEASES 6133 \| RPL9 \| DISEASES 6146 \| RPL22 \| DISEASES 1798 \| DPAGT1 \| DISEASES 27044 \| SND1 \| DISEASES 8293 \| SERF1A \| DISEASES 4625 \| MYH7 \| DISEASES 1785 \| DNM2 \| DISEASES 5358 \| PLS3 \| DISEASES 4649 \| MYO9A \| DISEASES 273 \| AMPH \| DISEASES 1778 \| DYNC1H1 \| DISEASES 3187 \| HNRNPH1 \| DISEASES 3084 \| NRG1 \| DISEASES 801 \| CALM1 \| DISEASES 1996 \| ELAVL4 \| DISEASES 487 \| ATP2A1 \| DISEASES 9204 \| ZMYM6 \| DISEASES 23141 \| ANKLE2 \| DISEASES 6714 \| SRC \| DISEASES 2213 \| FCGR2B \| DISEASES 9652 \| TTC37 \| DISEASES 7415 \| VCP \| DISEASES 1995 \| ELAVL3 \| DISEASES 9019 \| MPZL1 \| DISEASES 6261 \| RYR1 \| DISEASES 26191 \| PTPN22 \| DISEASES 4151 \| MB \| DISEASES 10092 \| ARPC5 \| DISEASES 3123 \| HLA-DRB1 \| DISEASES 7037 \| TFRC \| DISEASES 773 \| CACNA1A \| DISEASES 10072 \| DPP3 \| DISEASES 2107 \| ETF1 \| DISEASES 26580 \| BSCL2 \| DISEASES 6663 \| SOX10 \| DISEASES 23085 \| ERC1 \| DISEASES 9953 \| HS3ST3B1 \| DISEASES 7169 \| TPM2 \| DISEASES 2673 \| GFPT1 \| DISEASES 10367 \| MICU1 \| DISEASES 4512 \| MT-CO1 \| DISEASES 4519 \| MT-CYB \| DISEASES 4508 \| MT-ATP6 \| DISEASES 26047 \| CNTNAP2 \| DISEASES 1639 \| DCTN1 \| DISEASES 2705 \| GJB1 \| DISEASES 9542 \| NRG2 \| DISEASES 1756 \| DMD \| DISEASES 779 \| CACNA1S \| DISEASES 23038 \| WDTC1 \| DISEASES 1270 \| CNTF \| DISEASES 6262 \| RYR2 \| DISEASES 58 \| ACTA1 \| DISEASES 57165 \| GJC2 \| DISEASES 8476 \| CDC42BPA \| DISEASES 11116 \| FGFR1OP \| DISEASES 1378 \| CR1 \| DISEASES 1380 \| CR2 \| DISEASES 6993 \| DYNLT1 \| DISEASES 127833 \| SYT2 \| DISEASES 5788 \| PTPRC \| DISEASES 7402 \| UTRN \| DISEASES 163590 \| TOR1AIP2 \| DISEASES 55811 \| ADCY10 \| DISEASES 2214 \| FCGR3A \| DISEASES 57863 \| CADM3 \| DISEASES 912 \| CD1D \| DISEASES 4000 \| LMNA \| DISEASES 7170 \| TPM3 \| DISEASES 7062 \| TCHH \| DISEASES 4942 \| OAT \| DISEASES 9531 \| BAG3 \| DISEASES 8349 \| HIST2H2BE \| DISEASES 914 \| CD2 \| DISEASES 965 \| CD58 \| DISEASES 4803 \| NGF \| DISEASES 10492 \| SYNCRIP \| DISEASES 11218 \| DDX20 \| DISEASES 2010 \| EMD \| DISEASES 9118 \| INA \| DISEASES 10121 \| ACTR1A \| DISEASES 199857 \| ALG14 \| DISEASES 1137 \| CHRNA4 \| DISEASES 8776 \| MTMR1 \| DISEASES 4534 \| MTM1 \| DISEASES 959 \| CD40LG \| DISEASES 55796 \| MBNL3 \| DISEASES 5223 \| PGAM1 \| DISEASES 3725 \| JUN \| DISEASES 774 \| CACNA1B \| DISEASES 9211 \| LGI1 \| DISEASES 10555 \| AGPAT2 \| DISEASES 6834 \| SURF1 \| DISEASES 958 \| CD40 \| DISEASES 5631 \| PRPS1 \| DISEASES 3188 \| HNRNPH2 \| DISEASES 1759 \| DNM1 \| DISEASES 5453 \| POU3F1 \| DISEASES 1441 \| CSF3R \| DISEASES 5230 \| PGK1 \| DISEASES 8565 \| YARS \| DISEASES 10773 \| ZBTB6 \| DISEASES 26190 \| FBXW2 \| DISEASES 3710 \| ITPR3 \| DISEASES 4593 \| MUSK \| DISEASES 2582 \| GALE \| DISEASES 367 \| AR \| DISEASES 3339 \| HSPG2 \| DISEASES 55906 \| ZC4H2 \| DISEASES 3118 \| HLA-DQA2 \| DISEASES 5081 \| PAX7 \| DISEASES 10673 \| TNFSF13B \| DISEASES 50943 \| FOXP3 \| DISEASES 7133 \| TNFRSF1B \| DISEASES 2017 \| CTTN \| DISEASES 3105 \| HLA-A \| DISEASES 4340 \| MOG \| DISEASES 11166 \| SOX21 \| DISEASES 8027 \| STAM \| DISEASES 55735 \| DNAJC11 \| DISEASES 57449 \| PLEKHG5 \| DISEASES 8718 \| TNFRSF25 \| DISEASES 57704 \| GBA2 \| DISEASES 643847 \| PGA4 \| DISEASES 4038 \| LRP4 \| DISEASES 448831 \| FRG2 \| DISEASES 7293 \| TNFRSF4 \| DISEASES 375790 \| AGRN \| DISEASES 146 \| ADRA1D \| DISEASES 6643 \| SNX2 \| DISEASES 7222 \| TRPC3 \| DISEASES 1993 \| ELAVL2 \| DISEASES 3456 \| IFNB1 \| DISEASES 7280 \| TUBB2A \| DISEASES 6606 \| SMN1 \| DISEASES 6607 \| SMN2 \| DISEASES 728492 \| SERF1B \| DISEASES 6305 \| SBF1 \| DISEASES 1645 \| AKR1C1 \| DISEASES 9107 \| MTMR6 \| DISEASES 26278 \| SACS \| DISEASES 4155 \| MBP \| DISEASES 2706 \| GJB2 \| DISEASES 7750 \| ZMYM2 \| DISEASES 6736 \| SRY \| DISEASES 361 \| AQP4 \| DISEASES 8292 \| COLQ \| DISEASES 22908 \| SACM1L \| DISEASES 2617 \| GARS \| DISEASES 1146 \| CHRNG \| DISEASES 147700 \| KLC3 \| DISEASES 4099 \| MAG \| DISEASES 51347 \| TAOK3 \| DISEASES 64423 \| INF2 \| DISEASES 65009 \| NDRG4 \| DISEASES 79868 \| ALG13 \| DISEASES 1821 \| DRP2 \| DISEASES 6641 \| SNTB1 \| DISEASES 174 \| AFP \| DISEASES 23164 \| MPRIP \| DISEASES 374286 \| CDRT1 \| DISEASES 7919 \| DDX39B \| DISEASES 6843 \| VAMP1 \| DISEASES 10020 \| GNE \| DISEASES 6202 \| RPS8 \| DISEASES 825 \| CAPN3 \| DISEASES 4703 \| NEB \| DISEASES 7106 \| TSPAN4 \| DISEASES 51699 \| VPS29 \| DISEASES 1305 \| COL13A1 \| DISEASES 3119 \| HLA-DQB1 \| DISEASES 1837 \| DTNA \| DISEASES 54890 \| ALKBH5 \| DISEASES 6345 \| SRL \| DISEASES 8897 \| MTMR3 \| DISEASES 2531 \| KDSR \| DISEASES 84163 \| GTF2IRD2 \| DISEASES 81493 \| SYNC \| DISEASES 196385 \| DNAH10 \| DISEASES 3267 \| AGFG1 \| DISEASES 5165 \| PDK3 \| DISEASES 390594 \| KBTBD13 \| DISEASES 10659 \| CELF2 \| DISEASES 3120 \| HLA-DQB2 \| DISEASES 11171 \| STRAP \| DISEASES 2260 \| FGFR1 \| DISEASES 121512 \| FGD4 \| DISEASES 6329 \| SCN4A \| DISEASES 4908 \| NTF3 \| DISEASES 7124 \| TNF \| DISEASES 3106 \| HLA-B \| DISEASES 65065 \| NBEAL1 \| DISEASES 2130 \| EWSR1 \| DISEASES 3908 \| LAMA2 \| DISEASES 11155 \| LDB3 \| DISEASES 5817 \| PVR \| DISEASES 146822 \| CDRT15 \| DISEASES 9779 \| TBC1D5 \| DISEASES 4049 \| LTA \| DISEASES 84148 \| KAT8 \| DISEASES 3115 \| HLA-DPB1 \| DISEASES 3920 \| LAMP2 \| DISEASES 10540 \| DCTN2 \| DISEASES 3798 \| KIF5A \| DISEASES 2668 \| GDNF \| DISEASES 7555 \| CNBP \| DISEASES 2632 \| GBE1 \| DISEASES 7499 \| XG \| DISEASES 3586 \| IL10 \| DISEASES 627 \| BDNF \| DISEASES 721 \| C4B \| DISEASES 2801 \| GOLGA2 \| DISEASES 27333 \| GOLIM4 \| DISEASES 400916 \| CHCHD10 \| DISEASES 340526 \| RGAG4 \| DISEASES 1020 \| CDK5 \| DISEASES 57541 \| ZNF398 \| DISEASES 51428 \| DDX41 \| DISEASES 79628 \| SH3TC2 \| DISEASES 11275 \| KLHL2 \| DISEASES 221823 \| PRPS1L1 \| DISEASES 114907 \| FBXO32 \| DISEASES 4671 \| NAIP \| DISEASES 10687 \| PNMA2 \| DISEASES 270 \| AMPD1 \| DISEASES 4914 \| NTRK1 \| DISEASES 4359 \| MPZ \| DISEASES 84992 \| PIGY \| DISEASES 10658 \| CELF1 \| DISEASES 930 \| CD19 \| DISEASES 5027 \| P2RX7 \| DISEASES 56961 \| SHD \| DISEASES 4637 \| MYL6 \| DISEASES 8972 \| MGAM \| DISEASES 100288687 \| DUX4 \| DISEASES 653545 \| DUX4L5 \| DISEASES 503835 \| DUXA \| DISEASES 9990 \| SLC12A6 \| DISEASES 3316 \| HSPB2 \| DISEASES 820 \| CAMP \| DISEASES 8792 \| TNFRSF11A \| DISEASES 114780 \| PKD1L2 \| DISEASES 100302692 \| FTX \| DISEASES 10255 \| HCG9 \| DISEASES 102723508 \| KANTR \| DISEASES 100506195 \| LARGE-AS1 \| DISEASES 4511 \| MT-TC \| DISEASES 4555 \| MT-TD \| DISEASES 4556 \| MT-TE \| DISEASES 4563 \| MT-TG \| DISEASES 4564 \| MT-TH \| DISEASES 4566 \| MT-TK \| DISEASES 4576 \| MT-TT \| DISEASES 103164619 \| PCAT2 \| DISEASES 100169750 \| PRINS \| DISEASES
Locus	(Waiting for update.)

Disease ID	646
Disease	neuromuscular disease
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:43) HP:0001324 \| Muscular weakness \| 6 HP:0012378 \| Fatigue \| 5 HP:0002878 \| Respiratory failure \| 5 HP:0002650 \| Scoliosis \| 4 HP:0002791 \| Under breathing \| 4 HP:0012735 \| Coughing \| 3 HP:0011947 \| Respiratory infection \| 2 HP:0002877 \| Nocturnal under breathing \| 2 HP:0002015 \| Swallowing difficulty \| 2 HP:0012416 \| Hypercarbia \| 2 HP:0001250 \| Seizures \| 2 HP:0003202 \| Neurogenic muscle atrophy, especially in the lower limbs \| 2 HP:0001513 \| Obesity \| 2 HP:0003473 \| Fatigable weakness \| 1 HP:0003765 \| Psoriasis \| 1 HP:0003121 \| Limb joint contracture \| 1 HP:0002747 \| Respiratory distress due to muscle weakness \| 1 HP:0000822 \| Hypertension \| 1 HP:0005263 \| Gastritis \| 1 HP:0001762 \| Talipes equinovarus \| 1 HP:0001249 \| Mental retardation \| 1 HP:0007354 \| Amyotrophic lateral sclerosis \| 1 HP:0008443 \| Spinal deformities \| 1 HP:0001252 \| Hypotonia \| 1 HP:0001371 \| Flexion contractures of joints \| 1 HP:0100022 \| Movement disorder \| 1 HP:0200123 \| Chronic liver inflammation \| 1 HP:0012115 \| Liver inflammation \| 1 HP:0001644 \| Congestive cardiomyopathy \| 1 HP:0001760 \| Foot deformities \| 1 HP:0000518 \| Cataract \| 1 HP:0000726 \| Dementia \| 1 HP:0002091 \| Restrictive ventilatory defect \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0002527 \| Falls \| 1 HP:0000969 \| Dropsy \| 1 HP:0002607 \| Anal incontinence \| 1 HP:0100614 \| Muscle inflammation \| 1 HP:0000716 \| Depression \| 1 HP:0002751 \| Kyphoscoliosis \| 1 HP:0100512 \| Vitamin D deficiency \| 1 HP:0100598 \| Pulmonary oedema \| 1 HP:0001288 \| Gait disturbance \| 1

Disease ID	646
Disease	neuromuscular disease
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:10) C0004093 \| weakness \| 7 C0015672 \| fatigue \| 5 C1145670 \| respiratory failure \| 5 C0036439 \| scoliosis \| 4 C0020440 \| hypercapnia \| 2 C0948265 \| metabolic syndrome \| 2 C0264490 \| acute respiratory failure \| 2 C0264492 \| chronic respiratory failure \| 2 C0851578 \| sleep disorders \| 1 C0026846 \| muscle wasting \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:23)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894351	16949546	26353	HSPB8	umls:C0027868	BeFree	Structure and properties of K141E mutant of small heat shock protein HSP22 (HspB8, H11) that is expressed in human neuromuscular disorders.	0.000542884	2006	HSPB8	12	119187078	A	G
rs121912633	NA	59341	TRPV4	umls:C0027868	CLINVAR	NA	0.120542884	NA	TRPV4	12	109792396	C	T
rs121912637	NA	59341	TRPV4	umls:C0027868	CLINVAR	NA	0.120542884	NA	TRPV4	12	109784378	G	C,A
rs187864727	NA	59341	TRPV4	umls:C0027868	CLINVAR	NA	0.120542884	NA	TRPV4	12	109803054	C	A,T
rs207482230	25725944	10342	TFG	umls:C0027868	BeFree	Here, genome-wide linkage analysis and exome sequencing in an Iranian pedigree with 16 members affected with a neuromuscular disease led to identification of a mutation in TFG that causes p.Pro285Leu as cause of disease.	0.000271442	2014	TFG	3	100748182	C	T
rs267607143	NA	59341	TRPV4	umls:C0027868	CLINVAR	NA	0.120542884	NA	TRPV4	12	109798823	G	A
rs267607144	NA	59341	TRPV4	umls:C0027868	CLINVAR	NA	0.120542884	NA	TRPV4	12	109800665	C	T
rs267607145	NA	59341	TRPV4	umls:C0027868	CLINVAR	NA	0.120542884	NA	TRPV4	12	109798820	G	A
rs267607146	NA	59341	TRPV4	umls:C0027868	CLINVAR	NA	0.120542884	NA	TRPV4	12	109800666	G	A
rs267607148	NA	59341	TRPV4	umls:C0027868	CLINVAR	NA	0.120542884	NA	TRPV4	12	109800639	C	T
rs267607149	NA	59341	TRPV4	umls:C0027868	CLINVAR	NA	0.120542884	NA	TRPV4	12	109784385	C	T
rs387906902	NA	59341	TRPV4	umls:C0027868	CLINVAR	NA	0.120542884	NA	TRPV4	12	109793560	G	T
rs387906904	NA	59341	TRPV4	umls:C0027868	CLINVAR	NA	0.120542884	NA	TRPV4	12	109803009	G	A
rs387906905	NA	59341	TRPV4	umls:C0027868	CLINVAR	NA	0.120542884	NA	TRPV4	12	109798819	C	T
rs387906906	NA	59341	TRPV4	umls:C0027868	CLINVAR	NA	0.120542884	NA	TRPV4	12	109786827	G	A
rs387906907	NA	59341	TRPV4	umls:C0027868	CLINVAR	NA	0.120542884	NA	TRPV4	12	109800645	T	C
rs397514474	NA	59341	TRPV4	umls:C0027868	CLINVAR	NA	0.120542884	NA	TRPV4	12	109814565	C	A
rs397514494	NA	59341	TRPV4	umls:C0027868	CLINVAR	NA	0.120542884	NA	TRPV4	12	109808298	C	T
rs515726157	NA	59341	TRPV4	umls:C0027868	CLINVAR	NA	0.120542884	NA	TRPV4	12	109792704	T	C
rs515726166	NA	59341	TRPV4	umls:C0027868	CLINVAR	NA	0.120542884	NA	TRPV4	12	109784362	GGTCTCATTCTTGCCCG	-
rs74521370	22927026	126306	JSRP1	umls:C0027868	BeFree	Two JSRP1 variants have been found in the human population: c.323C>T (p.P108L) in exon 5 and c.449G>C (p.G150A) in exon 6, but nothing is known concerning the incidence of these polymorphisms in the general population or in patients with neuromuscular diseases nor the impact of the polymorphisms on excitation-contraction (EC) coupling.	0.000271442	2013	JSRP1	19	2253733	G	A
rs77975504	NA	59341	TRPV4	umls:C0027868	CLINVAR	NA	0.120542884	NA	TRPV4	12	109792695	C	T
rs80043033	22927026	126306	JSRP1	umls:C0027868	BeFree	Two JSRP1 variants have been found in the human population: c.323C>T (p.P108L) in exon 5 and c.449G>C (p.G150A) in exon 6, but nothing is known concerning the incidence of these polymorphisms in the general population or in patients with neuromuscular diseases nor the impact of the polymorphisms on excitation-contraction (EC) coupling.	0.000271442	2013	JSRP1	19	2252991	C	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:16)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0027868	amlodipine	D017311	88150-42-9	neuromuscular diseases	MESH:D009468	marker/mechanism	9825082
C0027868	amodiaquine	D000655	86-42-0	neuromuscular diseases	MESH:D009468	marker/mechanism	3651930
C0027868	azacitidine	D001374	320-67-2	neuromuscular diseases	MESH:D009468	marker/mechanism	6178065
C0027868	chloroquine	D002738	1954/5/7	neuromuscular diseases	MESH:D009468	marker/mechanism	10686640
C0027868	cimetidine	D002927	51481-61-9	neuromuscular diseases	MESH:D009468	marker/mechanism	3010423
C0027868	colchicine	D003078	64-86-8	neuromuscular diseases	MESH:D009468	marker/mechanism	10686640
C0027868	cyclophosphamide	D003520	50-18-0	neuromuscular diseases	MESH:D009468	marker/mechanism	278643
C0027868	cyclosporine	D016572	59865-13-3	neuromuscular diseases	MESH:D009468	marker/mechanism	12122515
C0027868	dapsone	D003622	80-08-0	neuromuscular diseases	MESH:D009468	marker/mechanism	182085
C0027868	cisplatin	D002945	15663-27-1	neuromuscular diseases	MESH:D009468	marker/mechanism	7692001
C0027868	disopyramide	D004206	3737/9/5	neuromuscular diseases	MESH:D009468	marker/mechanism	2564745
C0027868	omeprazole	D009853	73590-58-6	neuromuscular diseases	MESH:D009468	marker/mechanism	9466609
C0027868	paclitaxel	D017239	-	neuromuscular diseases	MESH:D009468	marker/mechanism	7692001
C0027868	phenytoin	D010672	57-41-0	neuromuscular diseases	MESH:D009468	marker/mechanism	19302663
C0027868	quinine	D011803	130-95-0	neuromuscular diseases	MESH:D009468	marker/mechanism	16568672
C0027868	vincristine	D014750	-	neuromuscular diseases	MESH:D009468	marker/mechanism	278643

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)